Canonical Allele Identifier: CA397064557

Gene: CYBA

Linked Data

• gnomAD v4: 16-88646822-T-C
• MyVariant Identifiers: chr16:g.88713230T>C (hg19) ; chr16:g.88646822T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88646822T>C , CM000678.2:g.88646822T>C	GRCh38
NC_000016.9:g.88713230T>C , CM000678.1:g.88713230T>C	GRCh37
NC_000016.8:g.87240731T>C	NCBI36
NG_007291.1:g.9228A>G , LRG_52:g.9228A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000565588.6:c.220A>G	ENSP00000455537.2:p.Thr74Ala
ENST00000696156.1:c.203+279A>G	ENSP00000512446.1:n.203+279A>G
ENST00000696157.1:c.220A>G	ENSP00000512447.1:p.Thr74Ala
ENST00000696158.1:c.220A>G	ENSP00000512448.1:p.Thr74Ala
ENST00000696159.1:c.220A>G	ENSP00000512449.1:p.Thr74Ala
ENST00000696160.1:c.220A>G	ENSP00000512450.1:p.Thr74Ala
ENST00000696161.1:c.350A>G	ENSP00000512451.1:p.Asp117Gly
ENST00000696162.1:c.220A>G	ENSP00000512452.1:p.Thr74Ala
ENST00000696163.1:c.204-35A>G	ENSP00000512453.1:n.204-35A>G
ENST00000261623.8:c.220A>G MANE Select	ENSP00000261623.3:p.Thr74Ala
ENST00000261623.7:c.220A>G	ENSP00000261623.3:p.Thr74Ala
ENST00000562209.1:n.500A>G
ENST00000563526.5:n.195A>G
ENST00000565588.5:c.4A>G
ENST00000566229.1:c.209A>G	ENSP00000457060.1:p.Asp70Gly
ENST00000566534.5:n.242A>G
ENST00000567174.5:c.220A>G	ENSP00000454951.1:p.Thr74Ala
ENST00000568278.1:c.220A>G	ENSP00000455506.1:p.Thr74Ala
ENST00000569359.5:c.220A>G	ENSP00000456079.1:p.Thr74Ala
NM_000101.3:c.220A>G	NP_000092.2:p.Thr74Ala
XM_011522905.1:c.220A>G	XP_011521207.1:p.Thr74Ala
XM_011522905.3:c.220A>G	XP_011521207.1:p.Thr74Ala
NM_000101.4:c.220A>G MANE Select	NP_000092.2:p.Thr74Ala